Aliases for HMGCR Gene
External Ids for HMGCR Gene
Previous GeneCards Identifiers for HMGCR Gene
HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
GeneCards Summary for HMGCR Gene
HMGCR (3-Hydroxy-3-Methylglutaryl-CoA Reductase) is a Protein Coding gene. Diseases associated with HMGCR include smith-lemli-opitz syndrome and xanthomatosis. Among its related pathways are Regulation of Cholesterol Biosynthesis by SREBP (SREBF) and Metabolism. GO annotations related to this gene include protein homodimerization activity and NADPH binding.
UniProtKB/Swiss-Prot for HMGCR Gene
Transmembrane glycoprotein that is the rate-limiting enzyme in cholesterol biosynthesis as well as in the biosynthesis of nonsterol isoprenoids that are essential for normal cell function including ubiquinone and geranylgeranyl proteins
3-hydroxy-3-methyl-glutaryl-CoA reductase (HMG-CoA reductase) catalyzes the rate limiting step in cholesterol biosynthesis - the conversion of 3-hydroxy-3-methyl-glutaryl-CoA into mevalonic acid. This transmembrane enzyme is bound to the endoplasmic reticulum and is ubiquitously expressed. When cholesterol levels falls, HMG-CoA reductase is transcriptionally upregulated by sterol regulatory element binding protein (SREBP), which binds to the sterol regulatory element (SRE) in the 5' region of the HMG-CoA gene. When cholesterol levels are elevated, short-term regulation of HMG-CoA is mediated by Ser872 phosphorylation by AMP-activated protein kinase and long-term regulation is mediated by the increased sensitivity of this enzyme to proteolytic breakdown. HMG-CoA reductase is the pharmalogical target for statins and the human gene encoding this enzyme is localized to 5q13.3-q14.